Gene table of SMARCA4 : SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SMARCA4	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS135900	COFFIN-SIRIS SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SMARCE1, SMARCB1, ARID1B, SMARCA4, ARID1A
PS609322	RHABDOID TUMOR PREDISPOSITION SYNDROME	ClinVar, OMIM	link to OMIM	2	SMARCA4, SMARCB1

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Annotation of the gene SMARCA4

Associated genes in ENSEMBL

ENSG00000127616

Associated proteins - SwissProt Accession ID

P51532

Associated PDB IDs

Cytogenetic Band

19p13.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by Wnt	R-HSA-195721	4.79
formation of the beta-catenin:TCF transactivating complex	R-HSA-201722	7.18
RMTs methylate histone arginines	R-HSA-3214858	7.49
Chromatin organization	R-HSA-4839726	5.19
TCF dependent signaling in response to WNT	R-HSA-201681	5.36
Signal Transduction	R-HSA-162582	1.78
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
structure-specific DNA binding	GO:0043566	4.98
histone binding	GO:0042393	4.72
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
RNA polymerase I regulatory region DNA binding	GO:0001013	7.54
core promoter proximal region DNA binding	GO:0001159	3.82
Tat protein binding	GO:0030957	7.66
nucleosome binding	GO:0031491	5.95
chromatin DNA binding	GO:0031490	5.37
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
nucleosomal DNA binding	GO:0031492	6.37
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
RNA polymerase II transcription cofactor activity	GO:0001104	5.22
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
transcriptional activator activity, RNA polymerase II transcription factor binding	GO:0001190	5.77
enhancer binding	GO:0035326	5.21
ATPase activity, coupled	GO:0042623	3.97
catalytic activity	GO:0003824	1.05
transcription corepressor activity	GO:0003714	4.33
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
nucleotide binding	GO:0000166	1.96
lysine-acetylated histone binding	GO:0070577	6.91
ribonucleotide binding	GO:0032553	2.19
nucleoside phosphate binding	GO:1901265	1.96
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
transcription factor binding	GO:0008134	3.46
ATP binding	GO:0005524	2.43
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
hydrolase activity	GO:0016787	1.9
steroid hormone receptor binding	GO:0035258	5.32
transcription regulatory region DNA binding	GO:0044212	3.03
androgen receptor binding	GO:0050681	6.07
RNA polymerase I CORE element sequence-specific DNA binding	GO:0001164	7.66
ribonucleoside binding	GO:0032549	2.22
nuclear hormone receptor binding	GO:0035257	4.7
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
RNA polymerase II transcription coactivator activity	GO:0001105	6.15
sequence-specific double-stranded DNA binding	GO:1990837	3.2
enzyme binding	GO:0019899	2.27
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
hormone receptor binding	GO:0051427	4.57
enhancer sequence-specific DNA binding	GO:0001158	5.36
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl ribonucleotide binding	GO:0032559	2.41
protein N-terminus binding	GO:0047485	5.11
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
RNA polymerase I regulatory region sequence-specific DNA binding	GO:0001163	7.66
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
protein complex binding	GO:0032403	3.09
regulatory region nucleic acid binding	GO:0001067	3.03
pyrophosphatase activity	GO:0016462	3.04
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
chromatin binding	GO:0003682	3.64
p53 binding	GO:0002039	5.53
purine ribonucleoside binding	GO:0032550	2.22
DNA polymerase binding	GO:0070182	7.25
transcriptional repressor activity, RNA polymerase II activating transcription factor binding	GO:0098811	5.77